A30S (p.Ala30Ser) variant of CACNB2 (Q08289)
A30S (p.Ala30Ser) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A30S (p.Ala30Ser) variant details
- p.Ala30Ser
- gnomAD 10-18140824-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.23
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.79
- Population evidence available
- Structural context available
- Literature evidence available